database.bio: A web application for interpreting human variations. Ou, M., Ma, R., Cheung, J., Lo, K., Yee, P., Luo, T., Chan, T L, Au, C. H., Kwong, A., Kwong, A., Luo, R., & Lam, T. Bioinformatics, August, 2015.
Paper doi abstract bibtex Rapid advances of next generation sequencing technology have led to the integration of genetic information with clinical care. Genetic basis of diseases and response to drugs provide new ways of disease diagnosis and safer drug usage. This integration reveals the urgent need for effective and accurate tools to analyze genetic variants. Due to the number and diversity of sources for annotation, automating variant analysis is a challenging task. Here we present database.bio, a web application that combines variant annotation, prioritization, and visualization so as to support insight into the individual genetic characteristics. It enhances annotation speed by preprocessing data on a supercomputer, and reduces database space via a unified database representation with compressed fields. AVAILABILITY AND IMPLEMENTATION:Freely Available at database.bio CONTACT: twlam@cs.hku.hk, rb@l3-bioinfo.com SUPPLEMENTARY INFORMATION: Available at Bioinformatics online.
@article{ou_database.bio:_2015,
title = {database.bio: {A} web application for interpreting human variations},
url = {http://bioinformatics.oxfordjournals.org/lookup/doi/10.1093/bioinformatics/btv500},
doi = {10.1093/bioinformatics/btv500},
abstract = {Rapid advances of next generation sequencing technology have led to the integration of genetic information with clinical care. Genetic basis of diseases and response to drugs provide new ways of disease diagnosis and safer drug usage. This integration reveals the urgent need for effective and accurate tools to analyze genetic variants. Due to the number and diversity of sources for annotation, automating variant analysis is a challenging task. Here we present database.bio, a web application that combines variant annotation, prioritization, and visualization so as to support insight into the individual genetic characteristics. It enhances annotation speed by preprocessing data on a supercomputer, and reduces database space via a unified database representation with compressed fields. AVAILABILITY AND IMPLEMENTATION:Freely Available at database.bio CONTACT: twlam@cs.hku.hk, rb@l3-bioinfo.com SUPPLEMENTARY INFORMATION: Available at Bioinformatics online.},
language = {English},
journal = {Bioinformatics},
author = {Ou, Min and Ma, Ricky and Cheung, Jeanno and Lo, Katie and Yee, Patrick and Luo, Tewei and Chan, T L and Au, Chun Hang and Kwong, Ava and Kwong, Ava and Luo, Ruibang and Lam, Tak-Wah},
month = aug,
year = {2015},
pmid = {26315902},
pages = {btv500},
}
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